Canonical Allele Identifier: CA024171
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12984
ClinVar RCV Id: RCV000013856 RCV000013855 RCV000119527 RCV000990211 RCV001060435 RCV001787789 RCV001787794 RCV001787790 RCV001787791 RCV001787792 RCV001787793 RCV001787795 RCV004017242
dbSNP Id: rs118192168
ExAC: 19:39071043 G / A
gnomAD v2: 19-39071043-G-A
gnomAD v3: 19-38580403-G-A
gnomAD v4: 19-38580403-G-A
MyVariant Identifiers: chr19:g.39071043G>A (hg19) chr19:g.38580403G>A (hg38)
ERepo: CA024171/MONDO:0007783/012
PubMed: PMID:12136074 PMID:16917943 PMID:17226826 PMID:18253926
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580403G>A , CM000681.2:g.38580403G>A GRCh38
NC_000019.9:g.39071043G>A , CM000681.1:g.39071043G>A GRCh37
NC_000019.8:g.43762883G>A NCBI36
NG_008866.1:g.151704G>A , LRG_766:g.151704G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1481G>A
ENST00000688602.1:c.2878G>A
ENST00000689936.1:c.2850G>A
ENST00000359596.8:c.14545G>A MANE Select ENSP00000352608.2:p.Val4849Ile
ENST00000355481.8:c.14530G>A ENSP00000347667.3:p.Val4844Ile
ENST00000359596.7:c.14545G>A ENSP00000352608.2:p.Val4849Ile
ENST00000360985.7:c.14527G>A ENSP00000354254.4:p.Val4843Ile
NM_000540.2:c.14545G>A , LRG_766t1:c.14545G>A NP_000531.2:p.Val4849Ile
NM_001042723.1:c.14530G>A NP_001036188.1:p.Val4844Ile
XM_006723317.1:c.14527G>A XP_006723380.1:p.Val4843Ile
XM_006723319.1:c.14512G>A XP_006723382.1:p.Val4838Ile
XM_011527204.1:c.14542G>A XP_011525506.1:p.Val4848Ile
XM_011527205.1:c.14458G>A XP_011525507.1:p.Val4820Ile
XM_006723317.2:c.14527G>A XP_006723380.1:p.Val4843Ile
XM_006723319.2:c.14512G>A XP_006723382.1:p.Val4838Ile
XM_011527205.2:c.14458G>A XP_011525507.1:p.Val4820Ile
NM_000540.3:c.14545G>A MANE Select NP_000531.2:p.Val4849Ile
NM_001042723.2:c.14530G>A NP_001036188.1:p.Val4844Ile
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